Technical and implementation issues in using next-generation sequencing of cancers in clinical practice

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Technical and implementation issues in using next-generation sequencing of cancers in clinical practice. / Ulahannan, D; Kovac, M B; Mulholland, P J; Cazier, J-B; Tomlinson, I.

In: British Journal of Cancer, Vol. 109, No. 4, 20.08.2013, p. 827-35.

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@article{bb3e3bbc506e412e902bf9be24f13865,
title = "Technical and implementation issues in using next-generation sequencing of cancers in clinical practice",
abstract = "Next-generation sequencing (NGS) of cancer genomes promises to revolutionise oncology, with the ability to design and use targeted drugs, to predict outcome and response, and to classify tumours. It is continually becoming cheaper, faster and more reliable, with the capability to identify rare yet clinically important somatic mutations. Technical challenges include sequencing samples of low quality and/or quantity, reliable identification of structural and copy number variation, and assessment of intratumour heterogeneity. Once these problems are overcome, the use of the data to guide clinical decision making is not straightforward, and there is a risk of premature use of molecular changes to guide patient management in the absence of supporting evidence. Paradoxically, NGS may simply move the bottleneck of personalised medicine from data acquisition to the identification of reliable biomarkers. Standardised cancer NGS data collection on an international scale would be a significant step towards optimising patient care.",
keywords = "Genome, Humans, Individualized Medicine, Molecular Diagnostic Techniques, Mutation, Neoplasms, Sequence Analysis, DNA",
author = "D Ulahannan and Kovac, {M B} and Mulholland, {P J} and J-B Cazier and I Tomlinson",
year = "2013",
month = aug,
day = "20",
doi = "10.1038/bjc.2013.416",
language = "English",
volume = "109",
pages = "827--35",
journal = "British Journal of Cancer",
issn = "0007-0920",
publisher = "Cancer Research UK",
number = "4",

}

RIS

TY - JOUR

T1 - Technical and implementation issues in using next-generation sequencing of cancers in clinical practice

AU - Ulahannan, D

AU - Kovac, M B

AU - Mulholland, P J

AU - Cazier, J-B

AU - Tomlinson, I

PY - 2013/8/20

Y1 - 2013/8/20

N2 - Next-generation sequencing (NGS) of cancer genomes promises to revolutionise oncology, with the ability to design and use targeted drugs, to predict outcome and response, and to classify tumours. It is continually becoming cheaper, faster and more reliable, with the capability to identify rare yet clinically important somatic mutations. Technical challenges include sequencing samples of low quality and/or quantity, reliable identification of structural and copy number variation, and assessment of intratumour heterogeneity. Once these problems are overcome, the use of the data to guide clinical decision making is not straightforward, and there is a risk of premature use of molecular changes to guide patient management in the absence of supporting evidence. Paradoxically, NGS may simply move the bottleneck of personalised medicine from data acquisition to the identification of reliable biomarkers. Standardised cancer NGS data collection on an international scale would be a significant step towards optimising patient care.

AB - Next-generation sequencing (NGS) of cancer genomes promises to revolutionise oncology, with the ability to design and use targeted drugs, to predict outcome and response, and to classify tumours. It is continually becoming cheaper, faster and more reliable, with the capability to identify rare yet clinically important somatic mutations. Technical challenges include sequencing samples of low quality and/or quantity, reliable identification of structural and copy number variation, and assessment of intratumour heterogeneity. Once these problems are overcome, the use of the data to guide clinical decision making is not straightforward, and there is a risk of premature use of molecular changes to guide patient management in the absence of supporting evidence. Paradoxically, NGS may simply move the bottleneck of personalised medicine from data acquisition to the identification of reliable biomarkers. Standardised cancer NGS data collection on an international scale would be a significant step towards optimising patient care.

KW - Genome

KW - Humans

KW - Individualized Medicine

KW - Molecular Diagnostic Techniques

KW - Mutation

KW - Neoplasms

KW - Sequence Analysis, DNA

U2 - 10.1038/bjc.2013.416

DO - 10.1038/bjc.2013.416

M3 - Article

C2 - 23887607

VL - 109

SP - 827

EP - 835

JO - British Journal of Cancer

JF - British Journal of Cancer

SN - 0007-0920

IS - 4

ER -